Q39* (p.Gln39Ter) variant of CFTR (P13569)
Q39* (p.Gln39Ter) in CFTR (P13569) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q39* (p.Gln39Ter) variant details
- p.Gln39Ter
- rs397508168
- ClinGen CA345303
- ClinVar RCV000056342
- ClinVar RCV000781224
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)